Linked Data
ClinVar Variation Id:
345493
dbSNP Id:
rs201764993
ExAC:
3:45963300 G / A
gnomAD v2:
3-45963300-G-A
gnomAD v3:
3-45921808-G-A
gnomAD v4:
3-45921808-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45921808G>A , CM000665.2:g.45921808G>A | GRCh38 |
| NC_000003.11:g.45963300G>A , CM000665.1:g.45963300G>A | GRCh37 |
| NC_000003.10:g.45938304G>A | NCBI36 |
| NG_031955.1:g.79017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296137.7:c.4394C>T MANE Select | ENSP00000296137.2:p.Thr1465Met | |
| ENST00000296137.6:c.4394C>T | ENSP00000296137.2:p.Thr1465Met | |
| ENST00000433878.5:c.760C>T | ||
| ENST00000438446.1:c.407C>T | ENSP00000398517.1:p.Thr136Met | |
| ENST00000535325.5:c.4454C>T | ENSP00000441178.1:p.Thr1485Met | |
| NM_024513.3:c.4394C>T | NP_078789.2:p.Thr1465Met | |
| XM_006713333.2:c.4394C>T | XP_006713396.1:p.Thr1465Met | |
| XM_006713334.2:c.4394C>T | XP_006713397.1:p.Thr1465Met | |
| XM_011534111.1:c.4394C>T | XP_011532413.1:p.Thr1465Met | |
| XR_245157.1:n.4609C>T | ||
| XM_006713333.3:c.4394C>T | XP_006713396.1:p.Thr1465Met | |
| XM_006713334.3:c.4394C>T | XP_006713397.1:p.Thr1465Met | |
| XM_011534111.3:c.4394C>T | XP_011532413.1:p.Thr1465Met | |
| NM_024513.4:c.4394C>T MANE Select | NP_078789.2:p.Thr1465Met | |
| NM_001386421.1:c.4394C>T | NP_001373350.1:p.Thr1465Met | |
| NM_001386422.1:c.4394C>T | NP_001373351.1:p.Thr1465Met | |
| NM_001386423.1:c.4391C>T | NP_001373352.1:p.Thr1464Met | |
| NM_001386425.1:c.4361+1848C>T | NP_001373354.1:n.4361+1848C>T | |
| NM_001386426.1:c.4274C>T | NP_001373355.1:p.Thr1425Met | |
| NM_001386427.1:c.4250C>T | NP_001373356.1:p.Thr1417Met | |
| NM_001386429.1:c.4252-2743C>T | NP_001373358.1:n.4252-2743C>T | |
| NM_001386430.1:c.3794C>T | NP_001373359.1:p.Thr1265Met | |
| NR_170107.1:n.4609C>T |